|Year : 2021 | Volume
| Issue : 1 | Page : 80-84
Cutaneous Manifestations of Juvenile Dermatomyositis: A Case Series
Sunanda Arun Mahajan, Jayati Shailesh Dave, Vidya D Kharkar
Department of Dermatology, Seth G.S. Medical College and K.E.M Hospital, Mumbai, Maharashtra, India
|Date of Submission||31-Mar-2020|
|Date of Decision||17-May-2020|
|Date of Acceptance||14-Jul-2020|
|Date of Web Publication||31-Dec-2020|
Jayati Shailesh Dave
Department of Dermatology, Seth G.S. Medical College and K.E.M Hospital, Mumbai, Maharashtra
Source of Support: None, Conflict of Interest: None
Juvenile Dermatomyositis (JDM) is an idiopathic inflammatory myopathy characterized by the weakness of skeletal muscle and pathognomonic skin rashes. Studies focusing on the cutaneous manifestations of JDM are sparse. The objectives of the study were (1) to describe cutaneous changes seen in JDM and (2) to observe nailfold capillaroscopy (NFC) changes in patients with JDM. This was a retrospective case series. All children under the age of 15 years who were diagnosed to have dermatomyositis according to the Bohan and Peter criteria and on histopathology presenting to the dermatology outpatient department during a period of 1.5 years (January 2017–June 2018) were included in the series. Details including clinical features and finding from investigations such as NFC, muscle magnetic resonance imaging, electromyography, muscle enzymes, and biopsy were noted. Statistical analysis was performed on the basis of measures such as percentage and frequency of cutaneous manifestations. A total of eight cases of JDM were included, with average age at presentation being 7.62 years. Among the cutaneous manifestations, the most common presenting features were heliotrope rash and Gottron's papule. Facial telangiectasias, calcinosis cutis, and hypertrichosis were seen in 37.5% of cases. Other cutaneous features seen were confluent and reticulate violaceous erythema, cutaneous ulcer, and periungual telangiectasia with cuticular overgrowth. NFC was suggestive of scleroderma-dermatomyositis pattern in all six patients in whom it was conducted. JDM has classic, pathognomonic skin manifestations that may or may not correspond with muscle inflammation. To avoid complications, early diagnosis and prompt treatment is the mainstay. NFC acts as an important diagnostic tool and also helps to characterize the phase of disease.
Keywords: Gottron's papules, heliotrope rash, juvenile dermatomyositis, nailfold capillaroscopy
|How to cite this article:|
Mahajan SA, Dave JS, Kharkar VD. Cutaneous Manifestations of Juvenile Dermatomyositis: A Case Series. Indian J Paediatr Dermatol 2021;22:80-4
|How to cite this URL:|
Mahajan SA, Dave JS, Kharkar VD. Cutaneous Manifestations of Juvenile Dermatomyositis: A Case Series. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Apr 20];22:80-4. Available from: https://www.ijpd.in/text.asp?2021/22/1/80/305807
| Introduction|| |
Idiopathic inflammatory myopathies are a group of rare autoimmune diseases characterized by a chronic inflammatory process affecting muscles, skin, and other organs. Juvenile dermatomyositis (JDM) is the most common inflammatory myositis in children accounting for approximately 85% of total cases. The estimated incidence is between two and five cases per million children under the age of 16 years. Some patients with inflammatory myopathy may also have features of other autoimmune diseases such as systemic lupus erythematosus, systemic sclerosis, and juvenile idiopathic arthritis. These patients are described as having overlap syndromes, and treatment should be tailored to the predominant features.
Genetic predisposition and environmental triggers such as infection by enterovirus or Group B streptococcus infection or exposure to ultraviolet radiation are likely to play an important role in the etiology.
The female-to-male ratio is around 5:1, and the disease most often starts between the ages of 5 and 9 years; around 25% of JDM patients have disease onset before the age of 4 years.
While adult DM and JDM share the hallmark disease characteristics of classical rash and muscle weakness, the frequency of other disease features varies with age of onset, which prompted us to study the cutaneous changes seen in JDM and observe nailfold capillaroscopy (NFC) changes in patients with JDM.
| Methods|| |
This was a retrospective case series including all children <15 years of age presenting to the dermatology outpatient department who were diagnosed to have dermatomyositis clinically, histopathologically, and according to the Bohan and Peter criteria. The study period for patient selection was 1.5 years (January 2017–June 2018). The history and clinical examination including complete dermatological examination findings were noted after taking consent from guardians. Relevant blood investigations (muscle enzyme levels, complete blood count, and liver and renal function test), autoantibody profile, magnetic resonance imaging (MRI), electromyography, and skin biopsy were noted. (Written informed consent was obtained from the guardians of patients for the skin biopsy test.) NFC was done by OITEZ e-scope digital microscope (DP-M17 filter e-scope pro [optical ×200]) with ×20 and ×200 magnification, and liquid paraffin was used as an immersion fluid.
- All clinically diagnosed JDM patients fulfilling Bohan and Peter criteria under the age of 15 years (after obtaining consent from their guardians).
- Patients not willing to give consent
- Patients in whom the diagnosis was doubtful.
| Results|| |
There were a total of eight cases during the specified study period. The majority of the patients were males (75%). The average age of presentation was 7.62 years. Three children were below 4 years of age. The duration of disease varied from 4 weeks to 2 years. The presenting cutaneous manifestation [Table 1] in the majority of our cases was heliotrope rash (75%) [Figure 1] and Gottron's papules (75%) [Figure 2]. Other manifestations included shawl sign (confluent and macular violaceous erythema in the distribution of shawl) (50%), facial telangiectasias (37.5%) [Figure 3], calcinosis cutis (37.5%) [Figure 4], poikiloderma (12.5%) [Figure 5], and cutaneous ulcers (12.5%) [Figure 6]. Periungual telangiectasias with cuticular overgrowth were seen in three patients [Figure 7]. Facial telangiectasias were seen in three patients. They were better examined with dermoscopy. All the patients had accompanying muscle weakness of proximal muscles in varying grades.
|Figure 1: Heliotrope sign-classical erythematous violaceous patch over bilateral malar area and nose|
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|Figure 2: Hypopigmented papules coalescing to form plaque on bilateral metacarpophalangeal joint and interphalangeal joint|
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|Figure 3: Multiple facial telangiectasias on face examined with the help of dermoscopy|
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|Figure 6: Multiple punched out ulcers with haemorrhagic crust on abdomen and chest|
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|Figure 7: Dilatation of capillaries, periungual telangiectasias with cuticular hyperplasia appreciated with a dermoscopy|
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All the patients fulfilled the Bohan and Peter criteria. Skin biopsy was suggestive of vacuolar change in basal layer with papillary dermal edema and mucinous changes interspersed with sparse superficial perivascular infiltrate [Figure 8]. Immunology profile by indirect immunofluorescence showed positive antinuclear antibody (ANA) with homogenous pattern in 83.33% of tested cases and negative ANA in a single patient; two patients could not be tested. ANA line blot was negative in all patients. Muscle enzymes such as creatine phosphokinase levels, lactate dehydrogenase, serum glutamate oxaloacetic transaminase, and serum glutamate pyruvic acid were raised in all patients. Electromyography was done in five patients, which was suggestive of myopathic pattern consisting of short polyphasic motor units, fibrillations, positive sharp waves, and insertional irritability and bizarre high-frequency repetitive discharges. MRI of proximal muscles using T2-weighted images and fat suppression was done in four patients to identify inflammation and site of muscle biopsy. Muscle biopsy was done in three patients only. The biopsy was suggestive of mixture of inflammatory infiltrate around perimysial arteries and myofiber changes such as perifascicular atrophy and ischemia.
|Figure 8: Biopsy from specific skin lesions showed vacuolar change in basal layer with papillary dermal edema and mucinous changes interspersed with sparse superficial perivascular infiltrate (H&E, 10X)|
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NFC showed scleroderma-dermatomyositis (SD) pattern characterized by giant ramified capillary loops and bushy capillary formations, with reduced capillary density [Figure 9] and [Table 2].
|Figure 9: Scleroderma-dermatomyositis pattern characterized by dilated capillary loops and bushy capillary formations, with reduced capillary density and avascular area. Images 3 and 4 show changes at lower magnification, with evidence of hemorrhage in image 4|
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Systemic manifestations were present in three patients: one with generalized anasarca and oliguria, one with proteinuria, and one with autoimmune hepatitis.
| Discussion|| |
The mean age at diagnosis in our case series was 7.62 years, with a male preponderance, which was similar to other studies.,,,, The pathognomonic rash of JDM, which is essential for diagnosis as per Bohan and Peter criteria, was present in all patients along with muscle weakness. Heliotrope rash was seen in 75% of our series patients similar to an Indian study by Singh and Bansal. Gottron's papules were seen in 75% of cases, which was higher than other studies., This difference may be because our series was conducted by dermatologists as opposed to other studies which were primarily conducted by other physicians such as rheumatologists. Calcinosis cutis was seen in 37.5% of case series patients, which was high compared to other studies,, and similar to Shehata et al. (40%). Calcinosis cutis is very common in JDM patients causing significant morbidity in up to 30% of cases. It usually occurs 1–3 years after JDM diagnosis but may occur as early as the time of diagnosis or as late as 20 years. The pressure-bearing sites such as elbows, knees, buttocks, and digits are commonly affected. It is associated with delayed diagnosis, chronic disease course, and inadequately treated disease. Hypertrichosis was seen in 37.5% of cases, which was high as compared to Singh et al (21.2%) and Chickermane et al (18.18%)., Cutaneous ulcers were seen in a single patient (12.5%), the reported prevalence of which in various studies is 6% to 30%. Vasculopathy of skin causing skin ulceration and major organ vasculopathy such as gut, cardiac, and central nervous system are also known to occur more commonly in JDM. Periungual telangiectasia and cuticular overgrowth were seen only in one patient, which was reported higher by Singh et al. None of our patients presented with lipodystrophy, arthritis, or esophageal or pulmonary symptoms. Lipodystrophy, often associated with hyperlipidemia and insulin resistance, can be seen in JDM and occurs years after disease onset.
ANA was positive in five out of six tested patients (83.33%); the reported prevalence is 10%–85%.
NFC was done in six patients, which showed SD pattern which is defined as the presence of two or more of the following in at least two nail folds: enlargement of capillary loops, loss of capillaries, bushy capillaries (angiogenesis), twisted capillaries (giant), and capillary hemorrhages. NFC can aid in the diagnosis as well as prognosis of disease, particularly in JDM, where it shows sequential changes according to the phase of disease. It also helps differentiate from other myopathies. Nearly 63% to 74% of patients of JDM are reported to have SD pattern.
All the children were administered oral prednisolone 1–1.5 mg/kg/day along with steroid-sparing agent such as methotrexate (0.2–0.4 mg/kg/week) which helped in the early alleviation of cutaneous symptoms and myopathy.
There is a significant variation in clinical manifestations in adult and juvenile dermatomyositis cases. There is a clearly established association between DM and malignancy in adults with a risk of malignancy being highest in the 1st year after diagnosis of DM. As JDM is not associated with malignancy, routine screening of children is not indicated. The incidence of pulmonary involvement in the form of respiratory muscle weakness, interstitial lung disease, and aspiration pneumonia in JDM patients is far less than that of adult DM patients.
One-third of children with JDM have a monocyclic course (disease goes into permanent remission after about 2 years of activity); the remaining two-thirds have a chronic continuous (disease unable to achieve a remission) or polycyclic course (when the patient relapsed again after initial remission). Complications such as long-term muscle weakness, muscle atrophy, calcifications, lipodystrophy, and joint contractures can be seen.
| Conclusion|| |
JDM has classic, pathognomonic skin manifestations that may or may not correspond with muscle inflammation. To avoid complications, early diagnosis and prompt treatment is the mainstay. NFC acts as an important diagnostic tool and helps to characterize the phase of disease. Dermatologists can help in early identification and diagnosis of subtle cutaneous features.
The retrospective nature of case series, limited follow-up period, and restricted data available for analysis and the small sample size due to rare nature of the disease contributed to the shortcomings of our series.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]
[Table 1], [Table 2]